Results 61 to 70 of about 78,502 (356)

Pituitary hypoplasia and growth hormone deficiency in a woman with glycogen storage disease type Ia: a case report

Journal of Medical Case Reports, 2008
Introduction Growth retardation is one of the cardinal manifestations of glycogen storage disease type Ia. It is unclear which component of the growth hormone and/or insulin-like growth factor axis is primarily disrupted, and management of growth ...
Dagdelen Selcuk, Atmaca Aysegul, Alikasifoglu Ayfer, Erbas Tomris   +3 more
doaj   +1 more source

Liver Transplantation for Glycogen Storage Disease Type IV

Frontiers in Pediatrics, 2021
Glycogen storage disease type IV (GSD IV) is a rare autosomal recessive disorder caused by glycogen–branching enzyme (GBE) deficiency, leading to accumulation of amylopectin–like glycogen that may damage affected tissues.
Min Liu, Min Liu, Li-Ying Sun, Li-Ying Sun, Li-Ying Sun   +4 more
doaj   +1 more source

Melatonin Modulates Glucose Metabolism Reprogramming via Targeting G6PD to Alleviate Lead‐Induced Hepatocytes Pyroptosis in Common Carp (Cyprinus carpio L.)

Advanced Science, EarlyView.
This study reveals that Lead reprograms glucose metabolism to enhance H3K18la, driving DRP1‐dependent mitochondrial DNA leakage and cGAS‐STING‐mediated pyroptosis. Melatonin targets G6PD to suppress glycolysis‐driven H3K18la and restore mitochondrial homeostasis, thereby alleviating Lead‐induced liver injury in common carp through disruption of the ...
Zhiying Miao, Xiaofeng Ji, Lai Wei, Zhiruo Miao, Shiwen Xu   +4 more
wiley   +1 more source

Mutation analysis of in a patient with glycogen storage disease-type Ib

Journal of International Medical Research, 2019
Objective The aim of the study was to investigate the relationship between SLC37A4 gene mutation and clinical phenotype in a patient with glycogen storage disease-type I.
Yamei Zhang, Huihui Sun, Naijun Wan
doaj   +1 more source

Survival, Quality of Life and Effects of Enzyme Replacement Therapy in Adults with Pompe Disease [PDF]

, 2013
Pompe disease, or glycogen storage disorder type II, is a rare inherited metabolic disorder caused by deficiency of the lysosomal enzyme acid α-glucosidase.
Güngör, D. (Deniz)
core   +1 more source

Research Progress on Biomaterials with Immunomodulatory Effects in Bone Regeneration

Advanced Science, EarlyView.
This review highlights recent advanced in immunomodulatory biomaterials for bone repair, focusing on design strategies, immune interactions, and clinical potential. Abstract The immune system plays a pivotal role in bone regeneration, and biomaterials engineered to modulate immune responses present a promising strategy for the treatment of extensive ...
Jianan Li, Ying Qu, Bingyang Chu, Tingkui Wu, Meng Pan, Dong Mo, Lang Li, Yang Ming, Yun Yang, Meng Wang, Xinlong He, Zhiyong Qian   +11 more
wiley   +1 more source

Isolated glycogen storage disease of the heart

Российский кардиологический журнал, 2019
Isolated glycogen storage disease of the heart (PRKAG2 syndrome) is a form of glycogenosis, which is characterized by left ventricular hypertrophy, similar to the phenotype of hypertrophic cardiomyopathy, associated with pre-excitation of the ventricles ...
S. M. Komissarova, N. M. Rineiskaya, N. N. Chakova, S. S. Niyazova, L. I. Plashchinskaya   +4 more
doaj   +1 more source

GYS1 or PPP1R3C deficiency rescues murine adult polyglucosan body disease

Annals of Clinical and Translational Neurology, 2020
Objective Adult polyglucosan body disease (APBD) is an adult‐onset neurological variant of glycogen storage disease type IV. APBD is caused by recessive mutations in the glycogen branching enzyme gene, and the consequent accumulation of poorly branched ...
Erin E. Chown, Peixiang Wang, Xiaochu Zhao, Justin J. Crowder, Jordan W. Strober, Mitchell A. Sullivan, Yunlin Xue, Cody S. Bennett, Ami M. Perri, Bret M. Evers, Peter J. Roach, Anna A. Depaoli‐Roach, H. Orhan Akman, Bartholomew A. Pederson, Berge A. Minassian   +14 more
doaj   +1 more source

A Glycoproteome Data Mining Strategy for Characterizing Structural Features of Altered Glycans with Thymic Involution

Advanced Science, EarlyView.
This study presents a comprehensive data mining strategy for in‐depth extraction of overall and altered glycan features from structural and site‐specific glycoproteome data across various biomedical samples. The strategy enables the uncovery of four major altered glycan features associated with thymic involution and reveals their coordinated ...
Zhida Zhang, Yongqi Wu, Ke Hou, Yiwen Zhang, Lin Chen, Muyao Yang, Zhehui Jin, Yongchao Xu, Yingjie Zhang, Yinli Cai, Jiayu Zhao, Shisheng Sun   +11 more
wiley   +1 more source

Dopamine D1 Receptor Contributes to Glucocorticoid‐Associated Osteonecrosis of Femoral Head Protection Through the ATF3/CHOP Axis to Inhibit Osteoblastic Apoptosis

Advanced Science, EarlyView.
This work identifies a novel mechanism by which dopamine D1 receptor (DRD1) contributes to the pathogenesis of glucocorticoid (GC)‐associated osteonecrosis of the femoral head (ONFH) through the regulation of osteoblastic apoptosis, indicating that DRD1 serves as a critical mediator of the crosstalk between the nervous and skeletal systems.
Kai Zheng, Wenming Li, Tianhao Wang, Gaoran Ge, Wei Zhang, Yi Qin, Wenhao Li, Zebin Wu, Zhen Wang, Gang Rui, Yaozeng Xu, Dechun Geng   +11 more
wiley   +1 more source